• 대한생식의학회:학술대회논문집
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• 대한생식의학회 2007년도 제53차 추계학술대회 초록집
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• pp.142.2-143
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• 2007

• 한국환경보건학회:학술대회논문집
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• 한국환경보건학회 2003년도 Challenges and Achievements in Environmental Health
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• pp.26-26
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• 2003

During the Viet Nam war, A Luoi located in Thua Thien Hue Province was heavily sprayed herbicides by the Ranch Hand Operation of U.S.A force (549.274 gallons). After 30 years of knocking the operation off, Dioxin has still contaminated on environment and human body in A Luoi valley. The results of the study show that there is an epidemiological relationship between AO/Dioxin exposure and increasing rate of reproductive anomalies and birth defects (the rate of reproductive anomalies including congenital deformities after the war during 10-year and 25-year is higher than that before the war from 1.5 to 4 times). The study found that the highest rate of reproductive anomalies is spontaneous abortion. The average is premature death and congenital deformities, and the lowest rate is dead foetus and hydratidiform mole. The results of the primary assessment suggested that Dioxin transport from environment to human body through the food chain exposed by Dioxin such as fish, chicken, duck. A mitigation plan for residual dioxin contamination from Agent Orange Hervicides is requeste indispensable to inhabitants in Aluoi District.

• 대한의생명과학회지
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• 제21권1호
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• pp.15-22
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• 2015

Dexamethasone, a synthetic glucocorticoid (GC), is clinically administered to woman at risk for premature labor to induce fetal lung maturation. However, exposure to repeated or excess GCs leads to intrauterine growth restriction (IUGR) and subsequently increases risk of psychiatric and cardio-metabolic diseases in later life through fetal programming mechanisms. GCs are key mediators of stress responses, therefore, maternal nutrient restriction or psychological stress during pregnancy also causes negative impacts on birth and neurodevelopment outcome of fetuses, and other congenital defects, such as craniofacial and skeletal abnormalities. In this study, to examine the effect of prenatal stress on fetal skeletal development, dexamethasone (1 mg/kg [DEX1] or 10 mg/kg [DEX10] maternal body weight per day) was administered intraperitoneally at gestational day 7.5~9.5 and the skeletons were prepared from embryos at day 18.5. Seven out of eighteen (39%) embryos treated with DEX10 showed axial skeletal abnormalities in either the T13 or L1 vertebrae. In addition, examination of the sternum revealed that xiphoid process, the protrusive triangular part of the lower end of the sternum, was bent more outward or inward in DEX group embryos. In conclusion, our findings suggest a possible link to the understanding of the effect of uterine environment to the fetal skeletal features.

• Clinical and Experimental Pediatrics
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• 제46권10호
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• pp.1047-1050
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• 2003

저자들은 분만 10일 전 herpes zoster 진단받은 산모에서 출생한 환아에서 피부 병변 없이 신경학적 이상 증세만을 보이는 perinatal varicella infection 1례를 경험하였기에 보고하는 바이다.

• 대한구순구개열학회지
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• 제10권1호
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• pp.17-22
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• 2007

The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity. These facial prominences arise during early embryogenesis from ventrally migrating neural crest cells in combination with the head ectoderm and mesoderm and undergo directed growth and expansion around the nasal pits to actively fuse with each other. Initial fusion is between lateral and medial nasal processes and is followed by fusion between maxillary and medial nasal processes. Fusion between these prominences involves active epithelial filopodial and adhering interactions as well as programmed cell death. Slight defects in growth and patterning of the facial mesenchyme or epithelial fusion result in cleft lip with or without cleft palate, the most common and disfiguring craniofacial birth defect. This review will summarize the current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• 전자공학회논문지SC
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• 제46권2호
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• pp.15-21
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• 2009

난청은 가장 흔한 선천성 장애이다. 이 질병의 발생 빈도는 신생아 1000명 출생 당 $1{\sim}3$명 정도로 상당히 높다. 이러한 청력 장애가 조기에 발견된다면 수술적인 치료 등으로 예방할 수 있으나, 그렇지 못할 경우 언어와 학습장애를 초래하게 된다. 이런 관점을 근거로 신생아를 대상으로 한 선천성 난청의 선별검사는 큰 의미를 가지며 난청환자의 조기발견을 위한 노력이 필수적이라 할 수 있다. 기존의 수동 청력검사 시스템은 신생아 청력 평가 시 검사자의 주관성에 의존하게 되므로, 청성뇌간 반응의 뇌파 분석이 잘못될 가능성이 커진다. 따라서 본 연구에서는 난청여부를 자동으로 판독하여 결과를 나오도록 개발하고자 하였으며, 또한 기존 제품들과 차별화하기 위하여 휴대용으로 개발하여 차폐실이 아닌 일반 병실에서도 검사가 가능하도록 함에 따라 유소아의 청각 장애를 극복시키는데 기여하고자 하였다.

• Clinical and Experimental Pediatrics
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• 제55권7호
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• pp.232-237
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• 2012

Purpose: With feasibility in the diagnoses of congenital heart disease (CHD) in the antenatal period, we suspect changes have occurred in its incidence. No data have been reported about the current incidence of simple forms of CHD in Korea. We have attempted to assess the recent incidence and characteristics of CHD in the neonatal care unit of a secondary referral medical center. Methods: Medical records of 497 neonatal care unit patients who underwent echocardiography in the past 5 years were reviewed. Preterm infants with patent ductus arteriosus and other transient, minimal lesions were excluded from this study. Results: Although the number of inpatients remained stable, the incidence of simple forms of CHD showed a gradual decrease over the 5-year study period; a markedly low incidence of complex forms was seen as well. CHD was observed in 3.7% full-term and 6.8% pre-term infants. CHD was observed in 152 infants weighing >2,500 g (3.5% of corresponding birth weight infants); 65 weighing 1,000 to 2,500 g (9.3%); and 6 weighing <1,000 g (8.0%). The incidence of CHD was higher in the pre-term group and the low birth weight group than in each corresponding subgroup (P<0.001); however, the incidence of complex CHD in full-term neonates was high. The number of patients with extracardiac structural anomalies has also shown a gradual decrease every year for the past 5 years. Conclusion: Findings from our study suggest that the recent incidence and disease pattern of CHD might have changed for both complex and simple forms of CHD in Korea.

• Advances in pediatric surgery
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• 제20권2호
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• pp.38-42
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• 2014

Purpose: Gastroschisis and omphalocele are major anterior abdominal wall defects. The purpose of this study was to analyze the clinical differences and mortalities of gastroschisis and omphalocele in Asan Medical Center. Methods: A retrospective review of the medical records was conducted of 103 cases of gastroschisis and omphalocele from September 1989 to February 2013 in Asan Medical Center in Korea. Results: There were 43 cases (41.7%) of gastroschisis and 60 cases (58.3%) of omphalocele. There was a female predominance in both gastroschisis (60.5%) and omphalocele (58.3%). The average gestational age at delivery was $36.7{\pm}0.4$ weeks for both groups. The mean birth weights were $2,381.9{\pm}80.6g$ for gastroschisis and $2,779.4{\pm}82.8g$ for omphalocele (p=0.001). Mean maternal ages in the gastroschisis and omphalocele groups were $27.5{\pm}0.7$ years and $30.5{\pm}0.7$ years, respectively (p=0.002). Associated malformations were documented in 13 infants (30.2%) with gastroschisis and 46 infants (76.7%) with omphalocele (p<0.001). All of gastroschisis patients except one underwent surgery including 31 primary repairs and 11 staged repairs. Fifty-two infants with omphalocele underwent surgery-primary repair in 41 infants and staged repair in 11 infants. Among 103 cases, 19 cases (18.4%) expired. Mortality rates of gastroschisis and omphalocele were 23.3% (10/43 cases) and 15.0% (9/60 cases), respectively (p=0.287). The main causes of death were abdominal compartment syndrome (6/10 cases) in gastroschisis, respiratory failure (4/9 cases) and discharge against medical advice (4/9 cases) in omphalocele. Conclusion: Gastroschisisis was associated with younger maternal age and lower birth weight than omphalocele. Associated malformations were more common in omphalocele. The mortality rates did not make a statistical significance. This might be the improvement of treatment of cardiac anomalies, because no patient died from cardiac dysfunction in our study. Furthermore, abdominal compartment syndrome might be the main cause of death in gastroschisis.